The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Variant: NM_000527.5(LDLR):c.844T>C (p.Phe282Leu)
CA404080610
977996 (ClinVar)
Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
UUID: e8a0ead8-7572-40fe-bdaa-ff7e2af9ad91
Approved on: 2023-04-28
Published on: 2023-04-30
HGVS expressions
NM_000527.5:c.844T>C
NM_000527.5(LDLR):c.844T>C (p.Phe282Leu)
NC_000019.10:g.11107418T>C
CM000681.2:g.11107418T>C
NC_000019.9:g.11218094T>C
CM000681.1:g.11218094T>C
NC_000019.8:g.11079094T>C
NG_009060.1:g.23038T>C
ENST00000558518.6:c.844T>C
ENST00000252444.9:n.1098T>C
ENST00000455727.6:c.340T>C
ENST00000535915.5:c.721T>C
ENST00000545707.5:c.463T>C
ENST00000557933.5:c.844T>C
ENST00000558013.5:c.844T>C
ENST00000558518.5:c.844T>C
ENST00000558528.1:n.359T>C
ENST00000560467.1:n.444T>C
NM_000527.4:c.844T>C
NM_001195798.1:c.844T>C
NM_001195799.1:c.721T>C
NM_001195800.1:c.340T>C
NM_001195803.1:c.463T>C
NM_001195798.2:c.844T>C
NM_001195799.2:c.721T>C
NM_001195800.2:c.340T>C
NM_001195803.2:c.463T>C
Evidence submitted by expert panel
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